Chromosomal Abnormalities among Children with Congenital Malformations

Radhakrishnan, Yashwanth; Chandra, Nallathambi; Gopinath, P. M.

doi:10.1080/09723757.2010.11886085

Cited by 5 publications

(6 citation statements)

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“…The most common chromosomal abnormality identified was Down's syndrome (77.77%). This was supported by a study done by Radhakrishnan Yashwanth et al 2 The other abnormalities identified are Turner's syndrome (5.55%), Trisomy 19(5.55%), satellite 13(5.55%) and satellite 22(5.55%). Out of 14 Down's syndrome, Trisomy 21 was present in 12 cases (85.71%) and mosaic pattern was seen in 2 cases (14.28%).…”

Section: Correlation Of Congenital Heart Disease and Down's Syndromesupporting

confidence: 63%

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Pattern of Chromosomal Anomalies in Dysmorphic Children and Their Clinical Correlation

Booma¹,

B²

2015

jemds

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BACKGROUNDChromosomal abnormalities are an important cause of congenital anomalies. OBJECTIVETo evaluate the pattern of chromosomal imbalances in congenital anomaly child and to find out the frequency of internal anomalies associated with external anomalies. METHODA total of 75 individuals in different age groups presenting clinical profile like syndromic features, congenital anomalies and facial dysmorphism were taken. All patients underwent clinical assessment, chest x-ray, echocardiogram and cytogenetic assessment through karyotyping. Chi-square test was used in the statistical analysis. RESULTSOut of 75 patients 40% are males, 60% are females of which chromosomal abnormalities detected 30% and 35% respectively; 62.66% have minor anomalies and major anomalies of 37.33%. Chromosomal abnormality detected includes Down's syndrome (77.77%), satellite 13 and 22(11.11%), turners syndrome (5.55%), trisomy 19(5.55%). Most common internal anomaly is congenital heart disease, predominantly atrioventricular septal defect. It has statistical significance with consanguinity (p <0.05). CONCLUSIONFrequency of Down's syndrome is high, reflecting the need of screening in all antenatal women. Karyotyping is recommended in all dysmorphic children as it can bring to the diagnosis, treatment and prognosis and for genetic counselling of patients and families.

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Section: Correlation Of Congenital Heart Disease and Down's Syndromesupporting

confidence: 63%

“…There is increase in chromosomal abnormalities in females were observed in this study. In the study done by Radhakrishnan Yashwanth et al 2 in Down's syndrome boys are having more chromosomal abnormalities than girls. This is probably attributed to other factors, which plays the role.…”

Section: Correlation Of Congenital Heart Disease and Down's Syndromementioning

confidence: 99%

Pattern of Chromosomal Anomalies in Dysmorphic Children and Their Clinical Correlation

Booma¹,

B²

2015

jemds

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“…[5] Both adults and children were included in other studies [3,5,9,[12][13][14] and only few were conducted exclusively among children suspected of chromosomal disorders. [15,16] The majority of chromosomal abnormalities observed in this study were numerical abnormalities (45.9%). A similar preponderance of numerical abnormalities was found in a study of 4216 patients.…”

Section: Discussionmentioning

confidence: 99%

“…In this study, 4 children were diagnosed with a terminal deletion of 5p characteristic of Cri-du-chat syndrome [del(5)(p15.2pter)], 1 child with Wolf-Hirschhorn syndrome [del(4)(p15.3pter)], 1 with Jacobsen syndrome [del(11)(q23.2qter)] and another child suspected with Angelman syndrome [del(15)(q11.2q12)] based on their clinical features. Yashwanth et al [15] found that evaluation of chromosomal abnormalities is important in understanding the underlying etiology of congenital malformations and intellectual disability. However, clinical diagnosis with molecular cytogenetic techniques (fluorescence in situ hybridization (FISH) and micro-array) in such patients could be improved.…”

Section: Sex Chromosomal Abnormalitiesmentioning

confidence: 99%

Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

Thillainathan¹,

Sirisena

Kariyawasam³

et al. 2014

World J Pediatr

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“…The genetic etiology of MCMs is widely variable: monogenic syndromes are estimated to account for 2-10% of cases, whereas chromosomal abnormalities are found in 10-15% of liveborns with MCMs [Stevenson and Hall, 2005] and in 9-39% of fetuses with abnormal ultrasound findings, depending on the presence of a single anomaly or multiple malformations [Wilson et al, 1992;Rizzo et al, 1996;Tseng et al, 2006;Yashwanth et al, 2010;Saldarriaga et al, 2015]. Subtelomeric deletions are present in ∼ 5% of patients with multiple CMs associated with mental retardation [Koolen et al, 2004].…”

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confidence: 99%

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

Gregorio

Gai²,

Botta³

et al. 2015

Cytogenet Genome Res

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Karyotyping and aCGH are routinely used to identify genetic determinants of major congenital malformations (MCMs) in fetal deaths or terminations of pregnancy after prenatal diagnosis. Pathogenic rearrangements are found with a variable rate of 9-39% for aCGH. We collected 33 fetuses, 9 with a single MCM and 24 with MCMs involving 2-4 organ systems. aCGH revealed copy number variants in 14 out of 33 cases (42%). Eight were classified as pathogenic which account for a detection rate of 24% (8/33) considering fetuses with 1 or more MCMs and 33% (8/24) taking into account fetuses with multiple malformations only. Three of the pathogenic variants were known microdeletion syndromes (22q11.21 deletion, central chromosome 22q11.21 deletion, and TAR syndrome) and 5 were large rearrangements, adding up to >11 Mb per subject and comprising strong phenotype-related genes. One of those was a de novo complex rearrangement, and the remaining 4 duplications and 2 deletions were 130-900 kb in size, containing 1-7 genes, and were classified as variants of unknown clinical significance. Our study confirms aCGH as a powerful technique to ascertain the genetic etiology of fetal major congenital malformations.

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Chromosomal Abnormalities among Children with Congenital Malformations

Cited by 5 publications

References 0 publications

Pattern of Chromosomal Anomalies in Dysmorphic Children and Their Clinical Correlation

Pattern of Chromosomal Anomalies in Dysmorphic Children and Their Clinical Correlation

Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

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